Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

被引：373

作者：

Fiddes, Ian T. ^{[1
]}

Lodewijk, Gerrald A. ^{[2
]}

Mooring, Meghan ^{[1
]}

Bosworth, Colleen M. ^{[1
]}

Ewing, Adam D. ^{[1
,16
]}

Mantalas, Gary L. ^{[1
,3
]}

Novak, Adam M. ^{[1
]}

van den Bout, Anouk ^{[2
]}

Bishara, Alex ^{[4
]}

Rosenkrantz, Jimi L. ^{[1
,5
]}

Lorig-Roach, Ryan ^{[1
]}

Field, Andrew R. ^{[1
,3
]}

Haeussler, Maximilian ^{[1
]}

Russo, Lotte ^{[2
]}

Bhaduri, Aparna ^{[6
,7
]}

Nowakowski, Tomasz J. ^{[6
,7
]}

Pollen, Alex A. ^{[6
,7
]}

Dougherty, Max L. ^{[8
]}

Nuttle, Xander ^{[9
,10
,11
,12
]}

Addor, Marie-Claude ^{[13
]}

Zwolinski, Simon ^{[14
]}

Katzman, Sol ^{[1
]}

Kriegstein, Arnold ^{[6
,7
]}

Eichler, Evan E. ^{[8
,15
]}

Salama, Sofie R. ^{[1
,5
]}

Jacobs, Frank M. J. ^{[1
,2
]}

Haussler, David ^{[1
,5
]}

机构：

[1] UC Santa Cruz Genom Inst, Santa Cruz, CA 95064 USA

[2] Univ Amsterdam, Swammerdam Inst Life Sci, Amsterdam, Netherlands

[3] UC Santa Cruz, Mol Cell & Dev Biol Dept, Santa Cruz, CA USA

[4] Stanford Univ, Dept Comp Sci, Stanford, CA 94305 USA

[5] UC Santa Cruz, Howard Hughes Med Inst, Santa Cruz, CA 95064 USA

[6] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

[7] Univ Calif San Francisco, Eli & Edythe Brd Ctr Regenerat Med & Stem Cell Re, San Francisco, CA 94143 USA

[8] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA

[9] Massachusetts Gen Hosp, Ctr Gen Med, Boston, MA 02114 USA

[10] Harvard Med Sch, Dept Neurol, Boston, MA USA

[11] Broad Inst, Program Med & Populat Genet, Cambridge, MA USA

[12] Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA USA

[13] Serv Genet Med, Lausanne, Switzerland

[14] Inst Genet Med, Northern Genet Serv, Dept Cytogenet, Newcastle Upon Tyne, Tyne & Wear, England

[15] Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA

[16] Univ Queensland, Mater Res Inst, Brisbane, Qld, Australia

来源：

CELL | 2018年 / 173卷 / 06期

关键词：

CHROMOSOME; 1Q21.1; GENOME SEQUENCE; RADIAL GLIA; GENE; EVOLUTION; DUPLICATIONS; AMPLIFICATION; NEANDERTHAL; PROTEOLYSIS; EXPRESSION;

D O I：

10.1016/j.cell.2018.03.051

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Genetic changes causing brain size expansion in human evolution have remained elusive. Notch signaling is essential for radial glia stem cell proliferation and is a determinant of neuronal number in the mammalian cortex. We find that three paralogs of human-specific NOTCH2NL are highly expressed in radial glia. Functional analysis reveals that different alleles of NOTCH2NL have varying potencies to enhance Notch signaling by interacting directly with NOTCH receptors. Consistent with a role in Notch signaling, NOTCH2NL ectopic expression delays differentiation of neuronal progenitors, while deletion accelerates differentiation into cortical neurons. Furthermore, NOTCH2NL genes provide the breakpoints in 1q21.1 distal deletion/duplication syndrome, where duplications are associated with macrocephaly and autism and deletions with microcephaly and schizophrenia. Thus, the emergence of human-specific NOTCH2NL genes may have cor.tributed to the rapid evolution of the larger human neocortex, accompanied by loss of genomic stability at the 1q21.1 locus and resulting recurrent neurodevelopmental disorders.

引用

页码：1356 / +

页数：36

共 57 条

[1] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[2] Primate segmental duplications: crucibles of evolution, diversity and disease [J].

Bailey, Jeffrey A. ;

Eichler, Evan E. .

NATURE REVIEWS GENETICS, 2006, 7 (07) :552-564

[3] Clinical phenotype of the recurrent 1q21.1 copy-number variant [J].

Bernier, Raphael ;

Steinman, Kyle J. ;

Reilly, Beau ;

Wallace, Arianne Stevens ;

Sherr, Elliott H. ;

Pojman, Nicholas ;

Mefford, Heather C. ;

Gerdts, Jennifer ;

Earl, Rachel ;

Hanson, Ellen ;

Goin-Kochel, Robin P. ;

Berry, Leandra ;

Kanne, Stephen ;

Snyder, LeeAnne Green ;

Spence, Sarah ;

Ramocki, Melissa B. ;

Evans, David W. ;

Spiro, John E. ;

Martin, Christa L. ;

Ledbetter, David H. ;

Chung, Wendy K. .

GENETICS IN MEDICINE, 2016, 18 (04) :341-349

[4] Differential interactions between Notch and ID factors control neurogenesis by modulating Hes factor autoregulation [J].

Boareto, Marcelo ;

Iber, Dagmar ;

Taylor, Verdon .

DEVELOPMENT, 2017, 144 (19) :3465-3474

[5] Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities [J].

Brunetti-Pierri, Nicola ;

Berg, Jonathan S. ;

Scaglia, Fernando ;

Belmont, John ;

Bacino, Carlos A. ;

Sahoo, Trilochan ;

Lalani, Seema R. ;

Graham, Brett ;

Lee, Brendan ;

Shinawi, Marwan ;

Shen, Joseph ;

Kang, Sung-Hae L. ;

Pursley, Amber ;

Lotze, Timothy ;

Kennedy, Gail ;

Lansky-Shafer, Susan ;

Weaver, Christine ;

Roeder, Elizabeth R. ;

Grebe, Theresa A. ;

Arnold, Georgianne L. ;

Hutchison, Terry ;

Reimschisel, Tyler ;

Amato, Stephen ;

Geragthy, Michael T. ;

Innis, Jeffrey W. ;

Obersztyn, Ewa ;

Nowakowska, Beata ;

Rosengren, Sally S. ;

Bader, Patricia I. ;

Grange, Dorothy K. ;

Naqvi, Sayed ;

Garnica, Adolfo D. ;

Bernes, Saunder M. ;

Fong, Chin-To ;

Summers, Anne ;

Walters, W. David ;

Lupski, James R. ;

Stankiewicz, Pawel ;

Cheung, Sau Wai ;

Patel, Ankita .

NATURE GENETICS, 2008, 40 (12) :1466-1471

[6] Nanopore long-read RNAseq reveals widespread transcriptional variation among the surface receptors of individual B cells [J].

Byrne, Ashley ;

Beaudin, Anna E. ;

Olsen, Hugh E. ;

Jain, Miten ;

Cole, Charles ;

Palmer, Theron ;

DuBois, Rebecca M. ;

Forsberg, E. Camilla ;

Akeson, Mark ;

Vollmers, Christopher .

NATURE COMMUNICATIONS, 2017, 8

[7] Inhibition of SRGAP2 Function by Its Human-Specific Paralogs Induces Neoteny during Spine Maturation [J].

Charrier, Cecile ;

Joshi, Kaumudi ;

Coutinho-Budd, Jaeda ;

Kim, Ji-Eun ;

Lambert, Nelle ;

de Marchena, Jacqueline ;

Jin, Wei-Lin ;

Vanderhaeghen, Pierre ;

Ghosh, Anirvan ;

Sassa, Takayuki ;

Polleux, Franck .

CELL, 2012, 149 (04) :923-935

[8] CHD1L: a novel oncogene [J].

Cheng, Wen ;

Su, Yun ;

Xu, Feng .

MOLECULAR CANCER, 2013, 12

[9] A genome-wide comparison of recent chimpanzee and human segmental duplications [J].

Cheng, Z ;

Ventura, M ;

She, XW ;

Khaitovich, P ;

Graves, T ;

Osoegawa, K ;

Church, D ;

DeJong, P ;

Wilson, RK ;

Pääbo, S ;

Rocchi, M ;

Eichler, EE .

NATURE, 2005, 437 (7055) :88-93

[10] Human adaptation and evolution by segmental duplication [J].

Dennis, Megan Y. ;

Eichler, Evan E. .

CURRENT OPINION IN GENETICS & DEVELOPMENT, 2016, 41 :44-52

← 1 2 3 4 5 6 →